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PMID: 10898518
Kunzelmann K, Schreiber R, Nitschke R, Mall M
Control of epithelial Na+ conductance by the cystic fibrosis transmembrane conductance regulator.
Pflugers Arch. 2000 Jun;440(2):193-201.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
78
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10898518:78:64
status:
NEW
view ABCC7 p.Gly551Asp details
ENaC is not inhibited by mutant CFTR, e.g. ∆F508-CFTR or
G551D
-CFTR, suggesting that the enhanced Na+ conductance in CF is caused by a lack of downregulation of ENaC by defective CFTR.
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114
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10898518:114:48
status:
NEW
view ABCC7 p.Gly551Asp details
We found that wtCFTR and the common CFTR mutant
G551D
, but not the most frequent CFTR mutant ∆F508, accumulate in the cell membrane of Xenopus oocytes during cAMP-dependent stimulation (Fig. 3).
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147
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10898518:147:140
status:
NEW
view ABCC7 p.Gly551Asp details
Summary of fluorescence measurements using confocal microscopy images of cell membranes of oocytes expressing wtCFTR, ∆F508-CFTR and
G551D
-CFTR as well as water-injected control oocytes.
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190
ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 10898518:190:27
status:
NEW
view ABCC7 p.Arg1066Cys details
ABCC7 p.Cys225Arg
X
ABCC7 p.Cys225Arg 10898518:190:12
status:
NEW
view ABCC7 p.Cys225Arg details
Analysis of
C225R
-CFTR and
R1066C
-CFTR.
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